Objective To analyze the genetic examination results of fetuses with congenital renal dysplasia.Methods A total of 118 fetal samples of congenital renal dysplasia and peripheral blood samples of their parents were selected from January 2019 to December 2023 in the prenatal diagnosis center of our hospital.92 cases fetal samples(group A)were divided into three groups based on extra-renal abnormalities.The first group was congenital renal dysplasia group(group A1,n=67),the second group was congenital renal dysplasia with soft indicators group(group A2,n=14),and the third group was congenital renal dysplasia with other system malformations(group A3,n=11).According to the types of congenital renal dysplasia,52 fetal samples containing pathogenic CNVs were divided into 12 categories.26 fetal samples(group B)from fetal and nuclear families who underwent whole exome sequencing(WES)were divided into two groups.Group G1(n=21)was used for fetal samples,and group G2(n=5)was used for nuclear families.The results of chromosome karyotype analysis,chromosome microarray analysis(CMA)and WES were analyzed.Results The abnormal rate of chromosome karyotype in group A3 was higher than that in the group A1(P<0.05).The proportion of CMA detection in group A3 was the highest[9 cases(81.82%)](P<0.05).The detection rate of pathogenic CNVs in 52 fetal samples tested by CMA was higher in group A3 than in group A1(P<0.05).There was no significant difference in WES detection results between G1 group and G2 group(P>0.05).Conclusion Chromosome karyotype analysis,CMA and WES have complementary advantages in the prenatal diagnosis of congenital renal dysplasia.
维普
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